Canonical Allele Identifier: CA2575809659

Gene: FAH

Linked Data

• ClinVar Variation Id: 2741012
• ClinVar RCV Id: RCV003516693

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80159889G>T , CM000677.2:g.80159889G>T	GRCh38
NC_000015.9:g.80452231G>T , CM000677.1:g.80452231G>T	GRCh37
NC_000015.8:g.78239286G>T	NCBI36
NG_012833.1:g.11891G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.314+12G>T	ENSP00000507680.1:n.314+12G>T
ENST00000682012.1:n.389+12G>T
ENST00000683593.1:n.191+12G>T
ENST00000684363.1:c.314+12G>T	ENSP00000507314.1:n.314+12G>T
ENST00000684569.1:n.359+12G>T
ENST00000561421.6:c.314+12G>T MANE Select	ENSP00000453347.2:n.314+12G>T
ENST00000646551.1:n.1801+12G>T
ENST00000261755.9:c.314+12G>T	ENSP00000261755.5:n.314+12G>T
ENST00000407106.5:c.314+12G>T	ENSP00000385080.1:n.314+12G>T
ENST00000537726.5:n.396+12G>T
ENST00000539156.5:c.104+12G>T	ENSP00000454271.1:n.104+12G>T
ENST00000558022.5:c.314+12G>T	ENSP00000453152.1:n.314+12G>T
ENST00000558767.5:n.575+12G>T
ENST00000561369.1:n.394+12G>T
ENST00000561421.5:c.314+12G>T	ENSP00000453347.1:n.314+12G>T
NM_000137.2:c.314+12G>T	NP_000128.1:n.314+12G>T
XM_024449872.1:c.314+12G>T	XP_024305640.1:n.314+12G>T
NM_000137.4:c.314+12G>T MANE Select	NP_000128.1:n.314+12G>T
NM_001374377.1:c.314+12G>T	NP_001361306.1:n.314+12G>T
NM_001374380.1:c.314+12G>T	NP_001361309.1:n.314+12G>T